An update on epigenetic mechanisms in endometriosis

Kyle Le, Kyle N LE, LE KN, Benor A, Ariel Benor, Decherney A, Alan H. DeCherney, Alan Decherney
Minerva obstetrics and gynecology · 2024 · vol. 77(4) , pp. 300–308 · doi:10.23736/s2724-606x.24.05631-8 · PMID:39625421 · W4404963192
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This review consolidates recent literature on epigenetic changes like DNA methylation, histone modifications, and non-coding RNAs associated with endometriosis, highlighting genes such as HOXA10 and SF-1.

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This review synthesizes literature from 1990 to 2022 regarding the role of epigenetic mechanisms in the etiopathogenesis of endometriosis. The authors categorize findings into DNA methylation, histone modifications, chromatin remodeling, and non-coding RNA interactions involving genes such as HOXA10 and various transcription factors. A significant limitation noted is the heterogeneity in study populations, analysis methods, and tissue types, which prevents the synthesis of overarching conclusions despite numerous identified genetic links. This paper is centrally about endometriosis — specifically examining how epigenetic alterations contribute to its development and potential for targeted therapy.

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Abstract

The etiopathogenesis of endometriosis, a chronic debilitating disease affecting nearly 10% of women, has evaded elucidation until the recent epigenetic discoveries. Although still deemed multifactorial, endometriosis is likely predisposed in women with genetic and epigenetic alterations, which are activated by environmental factors. There are many epigenetic changes that have recently been associated with endometriosis: DNA methylation and phosphorylation, modifications to histones and non-coding RNA, and chromatin remodeling and organization. Gene markers, such as HOXA10, SF-1, and GATA transcription factors, are also debatably correlated to endometriosis. An improved understanding of the etiopathogenesis of endometriosis may propel our field toward our objectives: sooner and more efficient detection as well as targeted therapy. In this comprehensive review, we will identify and discuss the current literature on epigenetic changes seen in endometriosis. A primary computerized search was performed on PubMed and Google scholar of publications from 1990 to 2022. We searched for keyword terms such as "endometriosis" and "endometriosis epigenetics." We also looked through the references of prior articles to find other relevant articles to this topic. Articles were categorized by type of epigenetic change found such as DNA hypo- or hyper- methylation, histone hyper- or hypo-acetylation, chromatin remodeling, and non-coding RNA-mediated down-regulation and the research was elaborated in sections based on the type of epigenetic change. There are many articles on TET, DNMTs, EZH2, HDACs, HATs, let-7 family, miRNAs, Hox proteins, GATA family, sirtuins (e.g. SIRT1, SIRT3), ARID1A, SF-1, USF1, USF2, STRA6, ESR1, ESR2, PGR, ALDHIA2, and CTCF; however, the studies analyzed in this review were heterogeneous in comparison populations, analysis methods, tissues types (e.g. endometriomas, ectopic endometriotic tissue, eutopic endometrial tissue). Due to this, it is difficult to synthesize over-arching conclusions based on the current literature; however, there are many epigenetic changes and genes linked to endometriosis as noted in the literature.
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JOURNAL TOOLS | | Journal policies | | Publishing options | | eTOC | | To subscribe | | Submit an article | | Recommend to your librarian | ARTICLE TOOLS | | Publication history | | Reprints | | Permissions | | Cite this article as | | Share | YOUR ACCOUNT YOUR ORDERS SHOPPING BASKET Items: 0 Total amount: € 0,00 HOW TO ORDER YOUR SUBSCRIPTIONS YOUR ARTICLES YOUR EBOOKS COUPON ACCESSIBILITY REVIEW Minerva Obstetrics and Gynecology 2025 August;77(4):300-8 DOI: 10.23736/S2724-606X.24.05631-8 Copyright © 2024 EDIZIONI MINERVA MEDICA language: English An update on epigenetic mechanisms in endometriosis Kyle N. LE 1 ✉, Ariel BENOR 2, Alan DECHERNEY 3 1 Cooper University Hospital, Camden, NJ, USA; 2 Maryland Physicians Edge LLC, Washington, DC, USA; 3 Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA The etiopathogenesis of endometriosis, a chronic debilitating disease affecting nearly 10% of women, has evaded elucidation until the recent epigenetic discoveries. Although still deemed multifactorial, endometriosis is likely predisposed in women with genetic and epigenetic alterations, which are activated by environmental factors. There are many epigenetic changes that have recently been associated with endometriosis: DNA methylation and phosphorylation, modifications to histones and non-coding RNA, and chromatin remodeling and organization. Gene markers, such as HOXA10, SF-1, and GATA transcription factors, are also debatably correlated to endometriosis. An improved understanding of the etiopathogenesis of endometriosis may propel our field toward our objectives: sooner and more efficient detection as well as targeted therapy. In this comprehensive review, we will identify and discuss the current literature on epigenetic changes seen in endometriosis. A primary computerized search was performed on PubMed and Google scholar of publications from 1990 to 2022. We searched for keyword terms such as “endometriosis” and “endometriosis epigenetics.” We also looked through the references of prior articles to find other relevant articles to this topic. Articles were categorized by type of epigenetic change found such as DNA hypo- or hyper- methylation, histone hyper- or hypo-acetylation, chromatin remodeling, and non-coding RNA-mediated down-regulation and the research was elaborated in sections based on the type of epigenetic change. There are many articles on TET, DNMTs, EZH2, HDACs, HATs, let-7 family, miRNAs, Hox proteins, GATA family, sirtuins (e.g. SIRT1, SIRT3), ARID1A, SF-1, USF1, USF2, STRA6, ESR1, ESR2, PGR, ALDHIA2, and CTCF; however, the studies analyzed in this review were heterogeneous in comparison populations, analysis methods, tissues types (e.g. endometriomas, ectopic endometriotic tissue, eutopic endometrial tissue). Due to this, it is difficult to synthesize over-arching conclusions based on the current literature; however, there are many epigenetic changes and genes linked to endometriosis as noted in the literature. KEY WORDS: Endometriosis; Epigenetics; Female infertility; Genetics

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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